Severe cirrhosis and neurological disease: possible Wilson's disease?

ABSTRACT

Wilson's disease, hepatolenticular degeneration, is a rare inherited disorder of copper metabolism, which is transmitted through a specific genetic abnormality on chromosome 13. The disease results from the failure of the liver to excrete copper. Excessive copper is thus deposited in liver, basal ganglia, eyes, kidneys, and skeleton causing damage including cirrhosis of the liver and degeneration of the basal ganglia. The 30-year-old Sudanese male presented in this case study developed a severe Parkinsonian-like neurological picture along with chronic liver disease. The diagnosis of Wilson's disease was suspected clinically and seemed possible with the finding of a highly increased 24-hour urinary excretion of copper although Kayser-Fleischer rings were not detected. We would like to draw attention to this condition, which, in areas where chronic liver disease is common, may easily be missed without a high index of suspicion